Now showing items 1-2 of 2

    • Genomic landscape of the Greater Middle East 

      Özçelik, T.; Onat, O. E. (Nature Publishing Group, 2016-09)
      Study of the Greater Middle East (GME), home to approximately 10% of the world's population, has made invaluable contributions to the characterization of rare genetic disease, especially recessive conditions arising from ...
    • Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy 

      Kolb, L. E.; Arlier, Z.; Yalcinkaya, C.; Ozturk, A. K.; Moliterno, J. A.; Erturk, O.; Bayrakli, F.; Korkmaz, B.; DiLuna, M. L.; Yasuno, K.; Bilguvar, K.; Ozcelik, T.; Tuysuz, B.; State, M. W.; Gunel, M. (Springer, 2010)
      Congenital ataxia with cerebellar hypoplasia is a heterogeneous group of disorders that presents with motor disability, hypotonia, incoordination, and impaired motor development. Among these, disequilibrium syndrome describes ...